Table 1 Clinical characteristics of the patients carrying the SHOX 5′UTR variants.
From: Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
Patient | Variation | Sex | Age at diagnosis | Height (cm) | Height SDS | Gestational age | Weight at birth (g) | Length at birth (cm) | Bone age (years) | Growth velocity (cm/year) | Growth velocity SDS | Target height SDS | Weight percentile | BMI percentile | Sitting height/height | Arm span/height | Cubitus Valgus | Short forearm | Curved forearm | Muscular hypertrophy | Ulnar dislocation (at the elbow) | Rappold score |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | c.-58 G > T | M | 10.3 | 131.1 | −1.17 | 39 | 2920 | 50 | 8 | 5 | −0.13 | 0.67 | 25–50 | >50 | 0.556 | na | No | No | No | No | No | 6 |
2 | c.-51 G > A | M | 12.2 | 125 | −3.17 | 40 | 2640 | 47 | 12.7 | na | na | −1.9 | <3 | 15 | 0.49 | 1.05 | Yes | No | No | No | No | 2 |
3 | c.-19 G > A | M | 10.7 | 130.4 | −1.64 | 39 | 3850 | 51.5 | 9.3 | 4.6 | −0.67 | −1.17 | 50 | 50–85 | 0.537 | 0.998 | No | No | No | No | No | 4 |
4.a | c.-19 G > A | F | 9.6 | 124.2 | −1.8 | 39 | 3130 | 45.4 | 9.2 | 4.3 | −1.41 | −2.10 | 25–50 | 85–97 | 0.553 | 0.998 | No | No | No | Yes | No | 9 |
4.b | c.-19 G > A | F | 7.7 | 116.8 | −1.6 | 40 | 3490 | 48 | na | 5.2 | −0.61 | −2.10 | 25 | 50–85 | 0.55 | 0.990 | No | No | No | Yes | No | 9 |
5 | c.-19 G > A | M | 16.4 | 155 | −2.4 | 39 | 4760 | 53 | 17 | na | na | −1.71 | 25 | 50–85 | 0.57 | 1 | No | No | No | Yes | No | 9 |
6 | c.-9del | F | 11.6 | 126 | −3.2 | 40 | 2770 | 49 | 10.8 | 8.4 | 0.1 | −2.0 | 1 | 1 | 0.54 | 0.99 | No | No | No | No | No | 0 |
